ClinVar Miner

List of variants reported as likely pathogenic by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg) rs912556508 0.00002
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) rs373272174 0.00002
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter) rs750583669 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) rs1300512258
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) rs1303126934
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000255.4(MMUT):c.-39-2A>G rs1767786464
NM_000255.4(MMUT):c.1102del (p.Val368fs) rs1767558588
NM_000255.4(MMUT):c.1107dup (p.Thr370fs) rs1767558268
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter) rs1767549304
NM_000255.4(MMUT):c.1560+2T>C rs1767442652
NM_000255.4(MMUT):c.1581dup (p.Ala528fs) rs1767368923
NM_000255.4(MMUT):c.1645del (p.Leu549fs) rs1767365298
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val) rs1289671563
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg) rs1767289269
NM_000255.4(MMUT):c.1787del (p.Glu596fs) rs1767284074
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.446dup (p.Asp149fs) rs1767737608
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu) rs764347583
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn) rs1767678885
NM_000344.4(SMN1):c.*3+3A>T rs1749776954
NM_000344.4(SMN1):c.280G>T (p.Val94Phe) rs1749440512
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala) rs2124491843
NM_001032221.6(STXBP1):c.1110+3A>C rs2131501481
NM_001040142.2(SCN2A):c.4493A>C (p.Tyr1498Ser) rs1558879863
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn) rs1564395473
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) rs61755762
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) rs2154255374
NM_001368809.2(AMPD2):c.1859G>T (p.Arg620Leu) rs587777395
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr) rs777624606
NM_003859.3(DPM1):c.371A>G (p.His124Arg) rs2123115725
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) rs1643667928
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_019023.5(PRMT7):c.927G>T (p.Gln309His) rs1597361540
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) rs940319528
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) rs2067964057
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173
Single allele

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