ClinVar Miner

List of variants studied for COACH syndrome 1 by Baylor Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_001378615.1(CC2D2A):c.4314+12C>T rs775304664 0.00009
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00008
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr) rs1719718448
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) rs1029054579
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu) rs976110882
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247

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