ClinVar Miner

List of variants studied for central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00009
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val) rs1335294030 0.00002
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr) rs1433654836 0.00002
NM_003924.4(PHOX2B):c.242-5_242-2dup rs1553898065 0.00001
NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser) rs1577559082 0.00001
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg) rs1462459716 0.00001
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser) rs769663483 0.00001
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg) rs587778606
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup) rs760638643
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp) rs1577559052
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003924.4(PHOX2B):c.860T>C (p.Leu287Pro)
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131

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