ClinVar Miner

List of variants reported as benign for aural atresia, congenital

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_005786.6(TSHZ1):c.*609A>C rs138461444
NM_005786.6(TSHZ1):c.*975G>T rs80211274
NM_005786.6(TSHZ1):c.-396C>T rs374781125
NM_005786.6(TSHZ1):c.-432del rs372787732
NM_005786.6(TSHZ1):c.1029G>A (p.Pro343=) rs34095753
NM_005786.6(TSHZ1):c.1389T>C (p.Pro463=) rs3809997
NM_005786.6(TSHZ1):c.1402G>A (p.Ala468Thr) rs33930274
NM_005786.6(TSHZ1):c.180C>T (p.Ser60=) rs3826609
NM_005786.6(TSHZ1):c.1862T>C (p.Leu621Pro) rs55679337
NM_005786.6(TSHZ1):c.2508G>A (p.Pro836=) rs34878160
NM_005786.6(TSHZ1):c.507T>C (p.Tyr169=) rs3744908
NM_005786.6(TSHZ1):c.771T>C (p.Asp257=) rs3744909

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