ClinVar Miner

List of variants studied for canthal anomaly by Natera, Inc.

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_001163817.2(DHCR7):c.58A>G (p.Asn20Asp) rs772572550
NM_001360.2(DHCR7):c.1011C>T (p.Ala337=) rs369382960
NM_001360.2(DHCR7):c.1134C>T (p.Ile378=) rs773505265
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.15G>A (p.Ser5=) rs147038941
NM_001360.2(DHCR7):c.321+34C>A rs76865413
NM_001360.2(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.485C>T (p.Ala162Val) rs398123606
NM_001360.2(DHCR7):c.522C>T (p.Phe174=) rs140648594
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.627-29T>G rs74742701
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.729C>T (p.Pro243=) rs145284180
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.956C>T (p.Thr319Met) rs766583874
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.3(DHCR7):c.-145C>G
NM_001360.3(DHCR7):c.-195G>T rs141057811
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val)
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe)
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe)
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
NM_001360.3(DHCR7):c.626+7T>A
NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala)
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu)
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro)

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