ClinVar Miner

List of variants studied for ptosis, hereditary congenital, 1

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024721.5(ZFHX4):c.3387G>A (p.Ser1129=) rs2733733 0.56605
NM_024721.5(ZFHX4):c.3213T>C (p.His1071=) rs16939357 0.29663
NM_024721.5(ZFHX4):c.5327A>G (p.Glu1776Gly) rs139920573 0.00533
NM_198721.4(COL25A1):c.130G>A (p.Val44Met) rs201162812 0.00014
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390 0.00003
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) rs1274380766 0.00001
NM_198721.4(COL25A1):c.672+1G>A rs759316372 0.00001
NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) rs1888700304
NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro) rs755969165
NM_012233.3(RAB3GAP1):c.151-5T>G rs1690127143
NM_024721.5(ZFHX4):c.1277G>A (p.Ser426Asn)
NM_024721.5(ZFHX4):c.2144G>A (p.Ser715Asn)
NM_024721.5(ZFHX4):c.9048C>A (p.Tyr3016Ter)
NM_024721.5(ZFHX4):c.9364C>T (p.Pro3122Ser)
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
NM_198721.4(COL25A1):c.672+1del rs2125927453
NM_198721.4:c.368-5122_708+6063del

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