List of variants in gene CRPPA reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 147

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HGVS	dbSNP	gnomAD frequency
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met)	rs202011820	0.00068
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)	rs200334999	0.00045
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)	rs770257307	0.00016
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys)	rs202126749	0.00014
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)	rs369832637	0.00012
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)	rs202108204	0.00011
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)	rs199691459	0.00010
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)	rs762370550	0.00009
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)	rs369193825	0.00009
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)	rs370397489	0.00008
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)	rs373422736	0.00008
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val)	rs939213590	0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)	rs773739293	0.00006
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr)	rs374054216	0.00005
NM_001101426.4(CRPPA):c.304A>G (p.Met102Val)	rs763300192	0.00004
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys)	rs775902619	0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His)	rs748777770	0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)	rs547473863	0.00004
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)	rs886043637	0.00003
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly)	rs757846188	0.00003
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)	rs566179705	0.00003
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys)	rs200114996	0.00003
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val)	rs765545106	0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr)	rs1314571093	0.00003
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)	rs1292380177	0.00002
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met)	rs749732549	0.00002
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys)	rs774852908	0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)	rs762217429	0.00001
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys)	rs1325845862	0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val)	rs747967711	0.00001
NM_001101426.4(CRPPA):c.1251+2T>C	rs370373583	0.00001
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys)	rs985567350	0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val)	rs886044370	0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	rs186882839	0.00001
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu)	rs751704613	0.00001
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile)	rs1190661385	0.00001
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg)	rs373082181	0.00001
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys)	rs764542382	0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val)	rs769346091	0.00001
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala)	rs747435762	0.00001
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val)	rs1330602558	0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile)	rs757165158	0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)	rs1008210645	0.00001
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His)	rs1210618248	0.00001
NM_001101426.4(CRPPA):c.685-3C>T	rs776027620	0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys)	rs778786691	0.00001
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln)	rs757986706	0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile)	rs761189549	0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro)	rs1562603563	0.00001
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg)	rs1345477841	0.00001
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro)	rs747622460	0.00001
NM_001101426.4(CRPPA):c.933+3A>G	rs377582530	0.00001
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg)	rs555932095	0.00001
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met)	rs1783720553	0.00001
NC_000007.13:g.(?_16131310)_(16131434_?)dup
NC_000007.13:g.(?_16131310)_(16460957_?)dup
NC_000007.13:g.(?_16131320)_(16348272_?)dup
NC_000007.13:g.(?_16341026)_(16460947_?)dup
NC_000007.13:g.(?_16415697)_(16415886_?)dup
NC_000007.13:g.(?_16415697)_(16460947_?)dup
NC_000007.14:g.(?_16216056)_(16216207_?)del
NM_001101426.4(CRPPA):c.1026+5G>C	rs762349005
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val)	rs1583472575
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn)	rs2128412318
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
NM_001101426.4(CRPPA):c.1119+3A>G	rs1783701192
NM_001101426.4(CRPPA):c.1120-3C>G
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly)	rs1391543167
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile)	rs747075828
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His)	rs758393771
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg)	rs1782301148
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly)	rs957843384
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe)	rs931469039
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys)	rs1415518757
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met)	rs1781841345
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg)	rs186882839
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly)	rs1788324318
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met)	rs1292380177
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro)	rs949985964
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg)	rs949985964
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser)	rs2128321450
NM_001101426.4(CRPPA):c.258-3T>G	rs899936625
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg)	rs1384501487
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys)	rs1787953727
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)	rs1190661385
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp)	rs1281479457
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln)	rs1356080750
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val)	rs2128318458
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly)	rs1472549168
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)	rs1472549168
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr)	rs2128318452
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser)	rs1787948983
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn)	rs1554363950
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile)	rs2128318425
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile)	rs762819997
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys)	rs2128318414
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=)	rs200798632
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly)	rs370499190
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser)	rs1786881434
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser)	rs1275411039
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe)	rs1198960792
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys)	rs2128312068
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala)	rs2128312067
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr)	rs886043226
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)	rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)	rs1786876478
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly)	rs769223335
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)	rs1786875241
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr)	rs2128424737
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His)	rs1784967390
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser)	rs397515409
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)	rs397515409
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe)	rs1784965639
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg)	rs1583508021
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala)	rs2128424716
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu)	rs1784787407
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu)	rs750477422
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn)	rs1784249249
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys)	rs764380983
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg)	rs1583487638
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)	rs373890080
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys)	rs373890080
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
NM_001101426.4(CRPPA):c.934-14T>A
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val)	rs886044693
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr)	rs369141466
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu)	rs376909665

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