ClinVar Miner

List of variants in gene CRPPA, LOC129998005 studied for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001101426.4(CRPPA):c.42G>T (p.Pro14=) rs1332918116 0.00005
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287 0.00002
NM_001101426.4(CRPPA):c.12G>A (p.Gly4=) rs1284386964 0.00001
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291 0.00001
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val) rs886043573 0.00001
NM_001101426.4(CRPPA):c.37G>A (p.Glu13Lys) rs1403508868 0.00001
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) rs920749386 0.00001
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro) rs794726893 0.00001
NM_001101426.4(CRPPA):c.95T>C (p.Leu32Pro) rs1020950940 0.00001
NM_001101426.4(CRPPA):c.-14_10del (p.Met1_Gly4del)
NM_001101426.4(CRPPA):c.101G>A (p.Ser34Asn)
NM_001101426.4(CRPPA):c.108C>G (p.Ala36=) rs1319812253
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
NM_001101426.4(CRPPA):c.21_44del (p.Ser8_Gly15del)
NM_001101426.4(CRPPA):c.25G>A (p.Ala9Thr) rs909976918
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu) rs192925278
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del) rs990740417
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys) rs1314652586
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) rs573488291
NM_001101426.4(CRPPA):c.45T>A (p.Gly15=)
NM_001101426.4(CRPPA):c.52C>G (p.Leu18Val) rs886043287
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs) rs2128321527
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001101426.4(CRPPA):c.6G>T (p.Glu2Asp) rs2128321553
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
NM_001101426.4(CRPPA):c.75C>T (p.Asp25=) rs1292034515
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro) rs886044190
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
NM_001101426.4(CRPPA):c.82G>C (p.Ala28Pro) rs2128321512
NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)

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