ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive DOPA responsive dystonia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000360.4(TH):c.1349G>A (p.Arg450His) rs138291013 0.00023
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.576G>A (p.Pro192=) rs201809787 0.00010
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_000360.4(TH):c.167C>T (p.Ala56Val) rs745974715 0.00007
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.394G>A (p.Val132Met) rs751702426 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.674C>A (p.Thr225Asn) rs141907589 0.00006
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.19A>C (p.Thr7Pro) rs768150949 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000360.4(TH):c.931A>G (p.Thr311Ala) rs1016513333 0.00004
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.978-3C>A rs754735292 0.00004
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) rs537643329 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) rs765379626 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.1430G>A (p.Arg477His) rs78426052 0.00001
NM_000360.4(TH):c.193G>A (p.Gly65Arg) rs780478399 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.38G>C (p.Gly13Ala) rs1225376055 0.00001
NM_000360.4(TH):c.43C>T (p.Arg15Cys) rs573547573 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.565T>G (p.Leu189Val) rs751996815 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.584C>T (p.Ser195Leu) rs372409517 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.91-853C>T rs756331878 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_000360.4(TH):c.*9C>A rs762091461
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) rs1564917127
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) rs1846080018
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) rs1846054204
NM_000360.4(TH):c.133G>A (p.Ala45Thr) rs1846204853
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.284C>G (p.Ala95Gly) rs769126179
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.293G>C (p.Arg98Pro) rs375214998
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.662G>T (p.Arg221Leu) rs150559011
NM_000360.4(TH):c.730G>T (p.Ala244Ser) rs759968927
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.978-6G>A rs75487597

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